{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T17:57:04Z","timestamp":1793987824960,"version":"4.8.0"},"reference-count":81,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T00:00:00Z","timestamp":1688688000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"\n Background<\/jats:title>\n \n Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of\n MEN1<\/jats:italic>\n gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cutaneous lesions and other non-endocrine manifestations of\n \n MEN1<\/jats:italic>\n <\/jats:italic>\n in a cohort of patients with familial (F) and sporadic (S)\n MEN1<\/jats:italic>\n , compare the prevalence of these manifestations between the two cohorts, and investigate the correlation with\n \n MEN1<\/jats:italic>\n <\/jats:italic>\n mutation status.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We collected phenotypic and genotypic data of 185 patients with F-\n MEN1<\/jats:italic>\n and S-\n MEN1<\/jats:italic>\n followed from 1997 to 2022. The associations between F-\n MEN1<\/jats:italic>\n and S-\n MEN1<\/jats:italic>\n or\n MEN1<\/jats:italic>\n mutation-positive and mutation-negative patients and non-endocrine manifestations were determined using chi-square or Fisher\u2019s exact tests or multivariate exact logistic regression analyses.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The prevalence of angiofibromas was significantly higher in F-\n MEN1<\/jats:italic>\n than in S-\n MEN1<\/jats:italic>\n in both the whole (p &lt; 0.001) and index case (p = 0.003) cohorts. The prevalence of lipomas was also significantly higher in F-\n MEN1<\/jats:italic>\n than in S-\n MEN1<\/jats:italic>\n (p = 0.009) and in\n MEN1<\/jats:italic>\n mutation-positive than in\n MEN1<\/jats:italic>\n mutation-negative (p = 0.01) index cases. In the whole cohort, the prevalence of lipomas was significantly higher in\n MEN1<\/jats:italic>\n mutation-positive compared to\n MEN1<\/jats:italic>\n mutation-negative patients (OR = 2.7, p = 0.02) and in F-\n MEN1<\/jats:italic>\n than in S-\n MEN1<\/jats:italic>\n (p = 0.03), only after adjustment for age. No significant differences were observed for the other non-endocrine manifestations between the two cohorts. Hibernoma and collagenoma were each present in one patient (0.5%) and meningioma and neuroblastoma in 2.7% and 0.5%, respectively. Gastric leiomyoma was present in 1.1% of the patients and uterine leiomyoma in 14% of women. Thyroid cancer, breast cancer, lung cancer, basal cell carcinoma, melanoma, and colorectal cancer were present in 4.9%, 2.7%, 1.6%, 1.6%, 2.2%, and 0.5% of the whole series, respectively.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We found a significantly higher prevalence of angiofibromas and lipomas in F-\n MEN1<\/jats:italic>\n compared with S-\n MEN1<\/jats:italic>\n and in\n MEN1<\/jats:italic>\n mutation-positive compared to\n \n MEN1<\/jats:italic>\n <\/jats:italic>\n mutation-negative patients. In patients with one major endocrine manifestation of\n \n MEN1<\/jats:italic>\n <\/jats:italic>\n , the presence of cutaneous lesions might suggest the diagnosis of\n \n MEN1<\/jats:italic>\n <\/jats:italic>\n and a possible indication for genetic screening.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fendo.2023.1191040","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T07:40:10Z","timestamp":1688715610000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":22,"title":["Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome"],"prefix":"10.3389","volume":"14","author":[{"given":"Laura","family":"Pierotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Dinoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Piaggi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Borsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Della Valentina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Sardella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Michelucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Adelaide","family":"Caligo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fausto","family":"Bogazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Marcocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Cetani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,7,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00468-3","article-title":"Clinical aspects of multiple endocrine neoplasia type 1","volume":"17","author":"Al-Salameh","year":"2021","journal-title":"Nat Rev Endocrinol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0186485","article-title":"Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features","volume":"12","author":"Pardi","year":"2017","journal-title":"PloS One"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209400","article-title":"Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression","volume":"25","author":"La","year":"2006","journal-title":"Oncogene"},{"key":"B4","first-page":"37","article-title":"Cellular functions of menin","volume-title":"SuperMEN1. 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